Canonical Allele Identifier: CA2466664258
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380702_154380713delinsGGCCATGGTGGC , CM000685.2:g.154380702_154380713delinsGGCCATGGTGGC GRCh38
NC_000023.10:g.153609062_153609073delinsGGCCATGGTGGC , CM000685.1:g.153609062_153609073delinsGGCCATGGTGGC GRCh37
NC_000023.9:g.153262256_153262267delinsGGCCATGGTGGC NCBI36
NG_008677.1:g.11267_11278delinsGGCCATGGTGGC , LRG_745:g.11267_11278delinsGGCCATGGTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.400-51_400-40delinsGGCCATGGTGGC ENSP00000507245.1:n.400-51_400-40delinsGGCCATGGTGGC
ENST00000682478.1:n.590-51_590-40delinsGGCCATGGTGGC
ENST00000683576.1:n.590-51_590-40delinsGGCCATGGTGGC
ENST00000683627.1:c.400-51_400-40delinsGGCCATGGTGGC ENSP00000507533.1:n.400-51_400-40delinsGGCCATGGTGGC
ENST00000684082.1:c.357-51_357-40delinsGGCCATGGTGGC ENSP00000508266.1:n.357-51_357-40delinsGGCCATGGTGGC
ENST00000684633.1:n.372-51_372-40delinsGGCCATGGTGGC
ENST00000684678.1:c.396-51_396-40delinsGGCCATGGTGGC ENSP00000507059.1:n.396-51_396-40delinsGGCCATGGTGGC
ENST00000369842.9:c.400-51_400-40delinsGGCCATGGTGGC MANE Select ENSP00000358857.4:n.400-51_400-40delinsGGCCATGGTGGC
ENST00000369835.3:c.295-51_295-40delinsGGCCATGGTGGC ENSP00000358850.3:n.295-51_295-40delinsGGCCATGGTGGC
ENST00000369842.8:c.400-51_400-40delinsGGCCATGGTGGC ENSP00000358857.4:n.400-51_400-40delinsGGCCATGGTGGC
ENST00000428228.5:c.*305-51_*305-40delinsGGCCATGGTGGC ENSP00000401081.1:n.*305-51_*305-40delinsGGCCATGGTGGC
ENST00000468294.5:n.360-51_360-40delinsGGCCATGGTGGC
ENST00000471965.1:n.138_149delinsGGCCATGGTGGC
ENST00000485261.1:n.590-51_590-40delinsGGCCATGGTGGC
ENST00000486738.5:n.758-51_758-40delinsGGCCATGGTGGC
ENST00000492448.1:n.383-51_383-40delinsGGCCATGGTGGC
NM_000117.2:c.400-51_400-40delinsGGCCATGGTGGC , LRG_745t1:c.400-51_400-40delinsGGCCATGGTGGC NP_000108.1:n.400-51_400-40delinsGGCCATGGTGGC
XM_024452349.1:c.406-51_406-40delinsGGCCATGGTGGC XP_024308117.1:n.406-51_406-40delinsGGCCATGGTGGC
NM_000117.3:c.400-51_400-40delinsGGCCATGGTGGC MANE Select NP_000108.1:n.400-51_400-40delinsGGCCATGGTGGC